Korean J Gastroenterol.  2004 Aug;44(2):93-98.

Mutations of SPINK1 and PRSS1 Gene in Korean Patients with Chronic Pancreatitis

• Lee KH
• Yoon WJ
• Ryu JK
• Kim YT
• Yoon YB
• Kim CY

Abstract

BACKGROUND/AIMS: It has been found that mutations of cationic trypsinogen gene (PRSS1) and serine protease inhibitor, Kazal type 1 gene (SPINK1) increase the susceptibility of chronic pancreatitis (CP). Specifically, mutations in the PRSS1 gene are related to the occurrences of hereditary and idiopathic pancreatitis while SPINK1 mutations are known to act as a disease modifier and are associated with idiopathic CP. However, the association of SPINK1 mutations with alcoholic CP is still controversial. We investigated the prevalence of PRSS1 and SPINK1 mutations in idiopathic and alcoholic CP in Korea. METHODS: Seventy-one Korean patients with CP (alcoholic: 47, idiopathic: 22 and familial: 2) and 19 controls were included in this studies. Genomic DNA was extracted from peripheral blood of the patients. Mutations of SPINK1 (exon 3: N34S) and PRSS1 (exon 2: N29I, exon 3: R122H) genes were detected by PCR-RFLP methods. For the detection of SPINK1 mutation, restriction endonuclease PstI and BsrDI were used, while Sau3A and AflIII were used for the defection of PRSS1 mutation. RESUTLS: Only one patient (2.1%) with alcoholic CP was a heterozygote for SPINK1 (N34S) mutation. Mutation in the PRSS1 (N29I, R122H) gene was not found in any group of CP patients. Additionally, we could not find any mutations of SPINK1 or PRSS1 in the control group. CONCLUSIONS: SPINK1 and PRSS1 mutations are not related to the development of CP in Korea.

Keyword

Cationic trypsinogen Gene; SPINK1 Gene; Pancreatitis; Chronic idiopathic; Pancreatitis; alcohol

MeSH Terms

Carrier Proteins/*genetics
English Abstract
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
*Mutation
Pancreatitis/*genetics
Pancreatitis, Alcoholic/genetics
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Trypsin/*genetics
Trypsinogen/*genetics